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Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome

Approximately half of all cases of Hoyeraal–Hreidarsson syndrome (HHS), a multisystem disorder characterized by bone marrow failure, developmental defects and very short telomeres, are caused by germline mutations in genes related to telomere biology. However, the varying symptoms and severity of th...

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Библиографические подробности
Опубликовано в: :Cell Death Dis
Главные авторы: Bergstrand, Sofie, Böhm, Stefanie, Malmgren, Helena, Norberg, Anna, Sundin, Mikael, Nordgren, Ann, Farnebo, Marianne
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2020
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7165179/
https://ncbi.nlm.nih.gov/pubmed/32303682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41419-020-2421-4
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